Ghezzi, 2015: Overview of all reported PxMD-PNKD patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
n.a.
|
Speech disturbance
Trigger: Caffeine Chorea Attacks at rest Dystonia Trigger: Stress Attacks – bilateral Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
7
|
n.a.
|
n.a.
|
||
No
|
♂
|
n.a.
|
n.a.
|
15
|
n.a.
|
n.a.
|
Athetosis
Trigger: Caffeine Trigger: Stress Attacks – bilateral Chorea Trigger: Alcohol Speech disturbance Attacks at rest Show more (+5) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
n.a.
|
Athetosis
Attacks - face Attacks - neck Attacks at rest Attacks – bilateral Chorea Trigger: Caffeine Dystonia Trigger: Stress Show more (+6) |
n.a.
|